Canonical Allele Identifier: CA2577189916

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190212920G>C , CM000664.2:g.190212920G>C	GRCh38
NC_000002.11:g.191077646G>C , CM000664.1:g.191077646G>C	GRCh37
NC_000002.10:g.190785891G>C	NCBI36
NG_017062.1:g.112126C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.1011+36C>G MANE Select	NP_055177.2:n.1011+36C>G
ENST00000359678.10:c.1011+36C>G MANE Select	ENSP00000352706.5:n.1011+36C>G
NM_014362.3:c.1011+36C>G	NP_055177.2:n.1011+36C>G
NM_198047.2:c.1011+36C>G	NP_932164.1:n.1011+36C>G
NM_198047.3:c.1011+36C>G	NP_932164.1:n.1011+36C>G
ENST00000359678.9:c.1011+36C>G	ENSP00000352706.5:n.1011+36C>G
ENST00000392332.7:c.1011+36C>G	ENSP00000376144.3:n.1011+36C>G
ENST00000409820.2:c.351+36C>G	ENSP00000387098.2:n.351+36C>G
ENST00000410045.5:c.342+36C>G	ENSP00000386274.1:n.342+36C>G
ENST00000416732.5:c.264+36C>G	ENSP00000399263.1:n.264+36C>G
ENST00000486981.1:n.280+36C>G
ENST00000489147.1:n.3154+36C>G
ENST00000622246.4:c.993+36C>G	ENSP00000481055.1:n.993+36C>G
XM_011510953.1:c.1011+36C>G	XP_011509255.1:n.1011+36C>G
XM_011510953.2:c.1011+36C>G	XP_011509255.1:n.1011+36C>G
XM_011510954.1:c.513+36C>G	XP_011509256.1:n.513+36C>G
XR_922903.1:n.1255+36C>G
XR_922903.2:n.1074+36C>G